TheAHI1variant (NM_001134831.2) c.2023G > A p.D675N and theGJB2variant (NM_004004.6) c.71G > A p.W24X, consistent with the clinical findings of Joubert syndrome 3 (JBTS3) and hearing impairment, respectively, were identified. The gene discussed is AHI1; the disease is Hearing impairment.